GenVue Discovery

Variant Report

Curation

Drug response reviewed by experts

Below are drug responses that were reviewed by an expert panel according to ClinVar. The data presented has no guarantees of reporting accuracy. Heterozygous variants are reported as yellow and homozygous variants as red. Reference alleles may be modified to match risk. While a red or yellow variant could indicate a suboptimal response to drug, it doesn't necessarily mean one won't respond well to it. This is for research and educational purposes only.

Gene: CYP19A1
Variant: c.*161T>G
rsID: rs4646
Ref Allele: A
Alt Allele: C
Freq: 70.0545%
CADD: 0.652

ClinVar Submissions (2)

Insufficiently evaluated pharmacogenetic — associated with response to a drug letrozole in cancer patients

Expert Reviewed drug response

Homo

CC

Gene: COMT
Variant: c.472G>A
(p.Val158Met)
rsID: rs4680
Ref Allele: G
Alt Allele: A
Freq: 42.4264%
CADD: 12.4

ClinVar Submissions (3)

Insufficiently evaluated pathogenic — A codominant allele affecting COMT enzyme activity, considered a benign functional polymorphism. Some claims of association with schizophrenia, Possibly provides advantage in memory and attention tasks ("worrier strategy").

Expert Reviewed drug response

Homo

AA

Gene: SOD2
Variant: c.47T>C
(p.Val16Ala)
rsID: rs4880
Ref Allele: A
Alt Allele: G
Freq: 45.7529%
CADD: 12.94

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

AG

Gene: GNB3
Variant: c.825C>T
(p.Ser275=)
rsID: rs5443
Ref Allele: C
Alt Allele: T
Freq: 46.124%
CADD: 0.665

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: VKORC1
Variant: c.*134G>A
rsID: rs7294
Ref Allele: C
Alt Allele: T
Freq: 38.4851%
CADD: 1.59

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

CT

Gene: ERCC1
Variant: c.354T>C
(p.Asn118=)
rsID: rs11615
Ref Allele: A
Alt Allele: G
Freq: 57.5449%
CADD: 1.504

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

AG

Gene: MC4R
Variant: g.60215554C>A
rsID: rs489693
Ref Allele: C
Alt Allele: A
Freq: 34.9667%
CADD: 0.12

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CA

Gene: APOA5
Variant: c.-644C>T
rsID: rs662799
Ref Allele: G
Alt Allele: A
Freq: 89.5929%
CADD: 3.29

ClinVar Submissions (1)

Insufficiently evaluated pharmacogenetic — associated with the triglyceride levels and the risk of first heart attack

Expert Reviewed drug response

Hetero

GA

Gene: DYNC2H1
Variant: g.103547430A>G
rsID: rs716274
Ref Allele: A
Alt Allele: G
Freq: 49.5676%
CADD: 2.369

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

AG

Gene: SLC28A3
Variant: c.862-360C>T
rsID: rs885004
Ref Allele: G
Alt Allele: A
Freq: 12.285%
CADD: 5.189

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GA

Gene: UGT1A1
Variant: c.-364C>T
rsID: rs887829
Ref Allele: C
Alt Allele: T
Freq: 34.8847%
CADD: 8.026

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: LOC100996325
Variant: n.366+1469G>A
rsID: rs924607
Ref Allele: C
Alt Allele: T
Freq: 30.6416%
CADD: 1.592

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: NAT2
Variant: c.282C>T
(p.Tyr94=)
rsID: rs1041983
Ref Allele: C
Alt Allele: T
Freq: 36.3604%
CADD: 0.032

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: TP53
Variant: c.215C>G
(p.Pro72Arg)
rsID: rs1042522
Ref Allele: G
Alt Allele: C
Freq: 61.6654%
CADD: 6.813

ClinVar Submissions (15)

Low clinical importance, Uncertain pathogenic — This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.

Expert Reviewed drug response

Hetero

GC

Gene: ADRB2
Variant: c.46A=
(p.Arg16=)
rsID: rs1042713
Ref Allele: G
Alt Allele: A
Freq: 42.6104%
CADD: 16.81

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GA

Gene: ABCB1
Variant: c.3435T>C
(p.Ile1145=)
rsID: rs1045642
Ref Allele: A
Alt Allele: G
Freq: 59.2492%
CADD: 0.015

ClinVar Submissions (3)

Expert Reviewed drug response

Hetero

AG

Gene: CHRNA3
Variant: c.645C>T
(p.Tyr215=)
rsID: rs1051730
Ref Allele: G
Alt Allele: A
Freq: 24.3932%
CADD: 22.5

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

GA

Gene: CBR3
Variant: c.730G>A
(p.Val244Met)
rsID: rs1056892
Ref Allele: G
Alt Allele: A
Freq: 39.35%
CADD: 18.79

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

AA

Gene: ITPA
Variant: c.94C>A
(p.Pro32Thr)
rsID: rs1127354
Ref Allele: C
Alt Allele: A
Freq: 6.5765%
CADD: 22.1

ClinVar Submissions (2)

Low clinical importance, pharmacogenetic — This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.

Expert Reviewed drug response

Hetero

CA

Gene: GATM
Variant: c.-394-272A>G
rsID: rs1346268
Ref Allele: T
Alt Allele: C
Freq: 33.4942%
CADD: 5.676

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

TC

Gene: HTR2C
Variant: c.551-3008C>G
rsID: rs1414334
Ref Allele: C
Alt Allele: G
Freq: 76.7066%

ClinVar Submissions (2)

Expert Reviewed drug response

Homo

GG

Gene: C8orf34
Variant: c.736+8162C>G
rsID: rs1517114
Ref Allele: C
Alt Allele: G
Freq: 62.6147%
CADD: 0.335

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CG

Gene: CETP
Variant: c.658+186C>A
rsID: rs1532624
Ref Allele: C
Alt Allele: A
Freq: 33.2585%
CADD: 8.322

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CA

Gene: -
Variant: g.45328787C>T
rsID: rs1719247
Ref Allele: C
Alt Allele: T
Freq: 45.776%
CADD: 3.114

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: ABCC4
Variant: c.3348G>A
(p.Lys1116=)
rsID: rs1751034
Ref Allele: C
Alt Allele: T
Freq: 78.5089%
CADD: 7.895

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

TT

Gene: NAT2
Variant: c.590G>A
(p.Arg197Gln)
rsID: rs1799930
Ref Allele: G
Alt Allele: A
Freq: 27.0889%
CADD: 18.73

ClinVar Submissions (2)

Insufficiently evaluated pharmacogenetic — This allele characterizes the NAT2*6A haplotype which causes slow acetylation.

Expert Reviewed drug response

Hetero

GA

Gene: FCGR2A
Variant: c.497A>G
(p.His166Arg)
rsID: rs1801274
Ref Allele: A
Alt Allele: G
Freq: 50.5431%
CADD: 0.08

ClinVar Submissions (3)

Expert Reviewed drug response

Hetero

AG

Gene: MTRR
Variant: c.66A>G
(p.Ile22Met)
rsID: rs1801394
Ref Allele: A
Alt Allele: G
Freq: 43.3765%
CADD: 20.7

ClinVar Submissions (6)

Low clinical importance, Likely pathogenic — This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.

Expert Reviewed drug response

Hetero

AG

Gene: CRHR1
Variant: c.1194+111C>T
rsID: rs1876828
Ref Allele: C
Alt Allele: T
Freq: 14.7992%
CADD: 6.162

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: TMEM43;XPC
Variant: c.2815C>A
(p.Gln939Lys)
rsID: rs2228001
Ref Allele: G
Alt Allele: T
Freq: 64.307%
CADD: 14.73

ClinVar Submissions (4)

Expert Reviewed drug response

Hetero

GT

Gene: VDR
Variant: c.2T>C
(p.Met1Thr)
rsID: rs2228570
Ref Allele: A
Alt Allele: G
Freq: 65.9746%
CADD: 24.6

ClinVar Submissions (3)

Expert Reviewed drug response

Homo

GG

Gene: HAS3
Variant: c.279A>G
(p.Ala93=)
rsID: rs2232228
Ref Allele: A
Alt Allele: G
Freq: 33.7801%
CADD: 13.71

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

AG

Gene: EPHX1
Variant: c.416A>G
(p.His139Arg)
rsID: rs2234922
Ref Allele: A
Alt Allele: G
Freq: 22.966%
CADD: 7.774

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

AG

Gene: CYP2B6
Variant: c.823-197T>C
rsID: rs2279345
Ref Allele: T
Alt Allele: C
Freq: 67.6653%
CADD: 1.711

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

CC

Gene: ADORA2A
Variant: c.-275+1797C>T
rsID: rs2298383
Ref Allele: C
Alt Allele: T
Freq: 47.8283%
CADD: 0.205

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

TT

Gene: VKORC1
Variant: c.283+837T>C
rsID: rs2359612
Ref Allele: A
Alt Allele: G
Freq: 62.7994%
CADD: 0.93

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

AG

Gene: CYP3A4
Variant: c.-392G>A
rsID: rs2740574
Ref Allele: C
Alt Allele: T
Freq: 77.7308%
CADD: 3.399

ClinVar Submissions (2)

Expert Reviewed drug response

Homo

TT

Gene: VKORC1
Variant: c.173+324T>G
rsID: rs2884737
Ref Allele: A
Alt Allele: C
Freq: 16.7232%
CADD: 3.96

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

AC

Gene: -
Variant: g.207629510T>C
rsID: rs2952768
Ref Allele: T
Alt Allele: C
Freq: 34.9683%
CADD: 6.283

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

CC

Gene: ERCC1
Variant: c.*197G>T
rsID: rs3212986
Ref Allele: C
Alt Allele: A
Freq: 27.718%
CADD: 0.61

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CA

Gene: PTGFR
Variant: c.-562T>C
rsID: rs3753380
Ref Allele: T
Alt Allele: C
Freq: 78.9891%
CADD: 6.726

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

TC

Gene: SCN1A
Variant: c.603-91G>A
rsID: rs3812718
Ref Allele: C
Alt Allele: T
Freq: 47.6706%
CADD: 18.66

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

CT

Gene: CYP2D6
Variant: c.506-1G>A
rsID: rs3892097
Ref Allele: C
Alt Allele: T
Freq: 14.4894%
CADD: 27.4

ClinVar Submissions (4)

Expert Reviewed drug response

Hetero

CT

Gene: CYP2C19
Variant: c.681G>A
(p.Pro227=)
rsID: rs4244285
Ref Allele: G
Alt Allele: A
Freq: 16.7312%
CADD: 2.285

ClinVar Submissions (4)

Insufficiently evaluated pharmacogenetic — This variant defines the CYP2C19*2 haplotype and is associated with diminished response of clopidogrel (plavix). Compared to individuals who do not have this variant, carriers of this variant are more likely to have a major adverse cardiovascular event despite treatment with clopidogrel.

Expert Reviewed drug response

Hetero

GA

Gene: EGF
Variant: c.-382A>G
rsID: rs4444903
Ref Allele: A
Alt Allele: G
Freq: 52.4321%
CADD: 8.542

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

AG

Gene: ATIC
Variant: c.1503+675T>C
rsID: rs4673993
Ref Allele: T
Alt Allele: C
Freq: 26.3801%
CADD: 1.942

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

CC

Gene: COQ2
Variant: c.779-1022C>G
rsID: rs4693075
Ref Allele: G
Alt Allele: C
Freq: 61.6184%
CADD: 1.96

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GC

Gene: FKBP5
Variant: c.-20+18122T>C
rsID: rs4713916
Ref Allele: A
Alt Allele: G
Freq: 77.1709%
CADD: 0.798

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

GG

Gene: CYP2B6
Variant: c.485-18C>T
rsID: rs4803419
Ref Allele: C
Alt Allele: T
Freq: 26.6628%
CADD: 2.548

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

TT

Gene: DPP6
Variant: c.52-71279T>C
rsID: rs6977820
Ref Allele: T
Alt Allele: C
Freq: 58.4257%
CADD: 6.496

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

CC

Gene: COL22A1
Variant: c.658+5484G>A
rsID: rs6988229
Ref Allele: C
Alt Allele: T
Freq: 28.207%
CADD: 0.375

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CT

Gene: VKORC1
Variant: g.296C>T
rsID: rs7196161
Ref Allele: G
Alt Allele: A
Freq: 55.4918%
CADD: 1.773

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

AA

Gene: SEMA3C
Variant: c.103+13883A>G
rsID: rs7779029
Ref Allele: T
Alt Allele: C
Freq: 14.9521%
CADD: 0.448

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

TC

Gene: SLC28A3
Variant: c.1381C>T
(p.Leu461=)
rsID: rs7853758
Ref Allele: G
Alt Allele: A
Freq: 19.716%
CADD: 17.57

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GA

Gene: TCF7L2
Variant: c.382-41435C>T
rsID: rs7903146
Ref Allele: C
Alt Allele: T
Freq: 27.0921%
CADD: 3.637

ClinVar Submissions (2)

Insufficiently evaluated pathogenic — associated with colorectal cancer for the T allele.

Expert Reviewed drug response

Hetero

CT

Gene: HTR2A
Variant: c.614-2211T>C
rsID: rs7997012
Ref Allele: A
Alt Allele: G
Freq: 71.3279%
CADD: 11.64

ClinVar Submissions (3)

Expert Reviewed drug response

Hetero

AG

Gene: VKORC1
Variant: c.283+124G>C
rsID: rs8050894
Ref Allele: C
Alt Allele: G
Freq: 39.1159%
CADD: 1.82

ClinVar Submissions (2)

Expert Reviewed drug response

Hetero

CG

Gene: IFNL3
Variant: g.39252525T>G
rsID: rs8099917
Ref Allele: T
Alt Allele: G
Freq: 15.2539%
CADD: 15.16

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

GG

Gene: VKORC1
Variant: c.174-136C>T
rsID: rs9934438
Ref Allele: G
Alt Allele: A
Freq: 33.6352%
CADD: 14.98

ClinVar Submissions (5)

Insufficiently evaluated pharmacogenetic — gene VKORC1 SNP 1173 C>T is strongly associated with low warfarin dose requirement.

Expert Reviewed drug response

Hetero

GA

Gene: C11orf65
Variant: c.175-5285G>T
rsID: rs11212617
Ref Allele: C
Alt Allele: A
Freq: 47.0924%
CADD: 2.33

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

CA

Gene: IFNL3
Variant: c.259-126T>C
rsID: rs11881222
Ref Allele: A
Alt Allele: G
Freq: 29.6994%
CADD: 4.956

ClinVar Submissions (1)

Expert Reviewed drug response

Homo

GG

Gene: -
Variant: g.94645745G>A
rsID: rs12777823
Ref Allele: G
Alt Allele: A
Freq: 19.157%
CADD: 1.903

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GA

Gene: IFNL3;IFNL4
Variant: c.151-152G>A
rsID: rs12979860
Ref Allele: C
Alt Allele: T
Freq: 39.0673%
CADD: 1.703

ClinVar Submissions (2)

Expert Reviewed drug response

Homo

TT

Gene: PRKCA
Variant: c.1854+3730G>A
rsID: rs16960228
Ref Allele: G
Alt Allele: A
Freq: 14.2218%
CADD: 0.139

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

GA

Gene: MC4R
Variant: g.60183864T>C
rsID: rs17782313
Ref Allele: T
Alt Allele: C
Freq: 24.1128%
CADD: 3.5

ClinVar Submissions (1)

Expert Reviewed drug response

Hetero

TC